American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Orthopaedic Trauma Management in Developing Countries: A Narrative Review of Clinical Practices, Socioeconomic Challenges, and Healthcare Outcomes. [PDF]
CureusAmbedkar A +5 more
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Palliative Care in Advanced Head and Neck Cancer: Multidisciplinary Management and End-of-Life Decision-Making. [PDF]
CureusDuarte Branco V +4 more
europepmc +1 more source
The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo
Australian Journal of Social Issues, EarlyView.ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton +2 more
wiley +1 more source
Ureteroarterial Fistula Secondary to External Iliac Artery Pseudoaneurysm in a Patient With Metastatic Colon Cancer. [PDF]
CureusPatacsil S, McKeon B.
europepmc +1 more source
Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme
Australian Journal of Social Issues, EarlyView.ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald +3 more
wiley +1 more source
Kidney transplantation in sub-Sahara African countries: challenges and lessons from the experience of Cameroon: a preliminary report of the first 17 pioneer cases. [PDF]
Ren FailDjientcheu VP +11 more
europepmc +1 more source